Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

The extracellular matrix (ECM) has an important role in the development and maintenance of skeletal muscle, and several muscle diseases are associated with the dysfunction of ECM elements. MAMDC2 is a putative ECM protein and its role in cell proliferation has been investigated in certain cancer types. However, its participation in skeletal muscle physiology has not been previously studied.

Autoantibody screening in Guillain-Barré syndrome.

Background: Guillain-Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain unknown in a substantial proportion of GBS patients. The objective of this study is to screen for autoantibodies targeting peripheral nerve components in Guillain-Barré syndrome.

Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients.

Objective: To study baseline serum neurofilament light chain (sNfL) levels as a prognostic biomarker in Guillain-Barré syndrome (GBS).

Methods: We measured NfL in serum (98 samples) and cerebrospinal fluid (CSF) (24 samples) of patients with GBS prospectively included in the International GBS Outcome Study (IGOS) in Spain using single-molecule array (SiMoA) and compared them with 53 healthy controls (HCs). We performed multivariable regression to analyse the association between sNfL levels and functional outcome at 1 year.

Patterns of care and outcome for patients with glioblastoma diagnosed during 2008-2010 in Spain.

Background: To assess management patterns and outcome in patients with glioblastoma multiforme (GBM) treated during 2008-2010 in Spain.

Methods: Retrospective analysis of clinical, therapeutic, and survival data collected through filled questionnaires from patients with histologically confirmed GBM diagnosed in 19 Spanish hospitals.

Results: We identified 834 patients (23% aged >70 years).

Human epidermal growth factor receptor 2 overexpression in breast cancer of patients with anti-Yo--associated paraneoplastic cerebellar degeneration.

Isolated case reports suggest that breast tumors from patients with paraneoplastic cerebellar degeneration (PCD) and Yo antibodies overexpress human epidermal growth factor receptor 2 (HER2). HER2 overexpression is present in 15%-25% of breast cancers and is associated with poor prognosis. We retrospectively analyzed the status of HER2 in breast tumors of 27 patients with anti-Yo-associated PCD to evaluate whether HER2 overexpression in this group of patients is higher than expected.

[Frontal cortical infarction and contralateral postural and international tremor].

Introduction: Movement disorders, when caused by ischemic stroke, may appear as initial manifestation or after a variable interval of time. Among postictal movement disorders tremor is an uncommon manifestation. Holmes' tremor, which is a mixed tremor, is the most frequent type of tremor after stroke.

[A descriptive analysis of the demand for ambulatory neurological care in the health district of Huelva].

Introduction: In recent years the demand for ambulatory neurological care has risen. Studying this situation can help to improve health care planning and the quality of the referrals from primary care.

Aim: To analyse a number of variables involved in the first visits referred from primary care to neurology services.

[Room tilt illusion: a rare symptom of migraine aura].

Introduction: Room tilt illusion is a distorted perception of the spatial distribution of objects due to complex rotations in different planes. This distortion usually occurs in the vertical plane and is usually associated to vertebrobasilar ischemia. The etiology of the phenomenon varies greatly and only rarely corresponds to migraine aura.

Frequent hypermethylation of the DNA repair gene MGMT in long-term survivors of glioblastoma multiforme.

We have performed a methylation-specific PCR approach to comparatively analyze the MGMT promoter methylation status in 186 glioblastomas (GBM) from patients with classic survival and nine from patients with long-term survival (LTS GBM). The methylation rate in LTS GBM was significantly higher (77.8% vs.

Hypersomnia as presenting symptom of anti-Ma2-associated encephalitis: case study.

We describe a patient who presented with excessive daytime sleepiness (EDS) and was eventually diagnosed with anti-Ma2 encephalitis. Neurological examination disclosed somnolence, left palpebral ptosis, and vertical gaze paresis. A brain MRI showed high signal intensity in the hypothalamus and each hippocampus.

Meningeal lymphomatosis as the first manifestation of splenic marginal zone lymphoma.

Meningeal lymphomatosis (ML) as the first manifestation of a splenic marginal zone lymphoma (SMZL) is rare. The descriptions of only 2 cases with this complication, one of which had ML as the first manifestation, have been published to date. We describe a 53-year-old man, an ex-smoker, who presented with transitory episodes of bilateral loss of visual acuity.

CpG island hypermethylation of the DNA repair enzyme methyltransferase predicts response to temozolomide in primary gliomas.

Purpose: The DNA repair enzyme O(6)-methylguanine DNA methyltransferase (MGMT) inhibits the killing of tumor cells by alkylating agents, and its loss in cancer cells is associated with hypermethylation of the MGMT CpG island. Thus, methylation of MGMT has been correlated with the clinical response to 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) in primary gliomas. Here, we investigate whether the presence of MGMT methylation in gliomas is also a good predictor of response to another emergent alkylating agent, temozolomide.

Meningeal carcinomatosis as the first manifestation of a transitional cell carcinoma of the bladder.

Meningeal carcinomatosis (MC) as first manifestation of a transitional cell carcinoma (TCC) of the bladder is rare. We report a 66-year-old man, smoker, who presented with two episodes of secondarily generalized partial motor seizures. The routine blood test, brain computed tomography (CT) scan, brain magnetic resonance imaging and electroencephalogram were normal.

Spectrum of paraneoplastic neurologic disorders in women with breast and gynecologic cancer.

We conducted the current review of the paraneoplastic neurologic syndromes (PNSs) associated with gynecologic and breast carcinomas to describe their clinical and immunologic characteristics and their relative frequency. We retrospectively reviewed 92 patients whose serum was sent to our laboratories to detect onconeural antibodies and who were diagnosed as having PNSs associated with breast or gynecologic tumors. PNSs were defined as "definitive" and "possible" (atypical PNS, no onconeural antibodies, and no improvement after tumor treatment).

[Paraneoplastic syndromes in otoneuro-ophthalmology].

Introduction And Objective: The so-called neurological paraneoplastic syndromes (NPNS) are a group of diseases of the central nervous system of unknown etiology which are seen almost exclusively in patients with cancer. We review the main NPNS paying particular attention to those with ophthalmological and otological features.

Development: Certain neuro-ophthalmological findings may constitute, at least partly, some paraneoplastic syndromes.